Canonical Allele Identifier: CA3808681
Gene: PRPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2693843
ClinVar RCV Id: RCV003592395
dbSNP Id: rs761320905
ExAC: 6:42690068 G / A
gnomAD v2: 6-42690068-G-A
gnomAD v3: 6-42722330-G-A
gnomAD v4: 6-42722330-G-A
MyVariant Identifiers: chr6:g.42690068G>A (hg19) chr6:g.42722330G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722330G>A , CM000668.2:g.42722330G>A GRCh38
NC_000006.11:g.42690068G>A , CM000668.1:g.42690068G>A GRCh37
NC_000006.10:g.42798046G>A NCBI36
NG_009176.1:g.5291C>T
NG_009176.2:g.5291C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.5C>T MANE Select ENSP00000230381.5:p.Ala2Val
ENST00000230381.6:c.5C>T ENSP00000230381.5:p.Ala2Val
NM_000322.4:c.5C>T NP_000313.2:p.Ala2Val
XR_427834.2:n.660C>T
XR_926295.1:n.660C>T
XR_427834.4:n.710C>T
XR_926295.3:n.710C>T
NM_000322.5:c.5C>T MANE Select NP_000313.2:p.Ala2Val
Search 100 bp 5'
Search 100 bp 3'